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glutaric acidemia I
Summary
- Synonym
-
- GA1
- glutaric academia type 1
- glutaric aciduria 1
- glutaric aciduria type I
- glutaryl-coA dehydrogenase deficiency
- glutaryl-coenzyme A dehydrogenase deficiency
- Definition
- An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13.
- Super Class
- autosomal recessive disease organic acidemia
External Links
- Disease Ontology
- DOID:0111254
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001290 | Generalized hypotonia |
| HP:0012448 | Delayed myelination |
| HP:0001942 | Metabolic acidosis |
| HP:0001252 | Hypotonia |
| HP:0003530 | Elevated circulating glutaric acid concentration |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001943 | Hypoglycemia |
| HP:0003593 | Infantile onset |
| HP:0001263 | Global developmental delay |
| HP:0006956 | Lateral ventricle dilatation |
